title: Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development.
abstract: The pontocerebellar hypoplasias are a heterogeneous group of rare and devastating conditions characterized by multiple structural abnormalities of the ventral pons, inferior olive, and cerebellum. Here, we briefly review these conditions and discuss genes recently discovered to be involved in pontocerebellar hypoplasia pathogenesis. We then present data that exclude several genes important for cerebellar development as causes of pontocerebellar hypoplasia-4 and pontocerebellar hypoplasia-5, and we demonstrate that not all cases of clinically defined pontocerebellar hypoplasia-4 result from mutations in TSEN54. We conclude that classification based on clinical, imaging, and neuropathological findings does not differentiate between pontocerebellar hypoplasia subtypes with different genetic causes.
authors.affiliation: Department of Pediatrics, Case Western Reserve University, Cleveland, OH, USA.
authors.forename: Stephen M
authors.initials: SM
authors.lastname: Maricich
authors.forename: Kaashif A
authors.initials: KA
authors.lastname: Aqeeb
authors.forename: Yalda
authors.initials: Y
authors.lastname: Moayedi
authors.forename: Erin L
authors.initials: EL
authors.lastname: Mathes
authors.forename: Millan S
authors.initials: MS
authors.lastname: Patel
authors.forename: David
authors.initials: D
authors.lastname: Chitayat
authors.forename: Gilles
authors.initials: G
authors.lastname: Lyon
authors.forename: Jules G
authors.initials: JG
authors.lastname: Leroy
authors.forename: Huda Y
authors.initials: HY
authors.lastname: Zoghbi
mesh_terms: D017668:Age of Onset; D002531:Cerebellum / Q000254:growth & development* / Q000473:pathology*; D004252:DNA Mutational Analysis; D004722:Endoribonucleases / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics; D009849:Olivopontocerebellar Atrophies / Q000145:classification / Q000235:genetics / Q000473:pathology
chemical_list: D004722:Endoribonucleases; C051012:splicing endonuclease